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GTR Home > Conditions/Phenotypes > Mitochondrial complex III deficiency nuclear type 2

Mitochondrial complex III deficiency nuclear type 2

Summary

Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000). [from OMIM]

Available tests

38 tests are in the database for this condition.

Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 2010204O13Rik, MC3DN2, TTC19
    Summary: tetratricopeptide repeat domain 19

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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